A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674484



Internal ID9940589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224945944..225060968hg38UCSC Ensembl
chr1:225133646..225248670hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38115025
hg19115025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv101e199
Supporting Variantsessv6381131, essv5619614, essv5819237, essv5508339, essv5686080, essv5499341, essv6451376, essv6542074, essv6047929, essv6573071, essv6004404, essv6239232, essv6058924, essv6549289, essv5986390, essv6090386, essv6162954, essv6228073, essv5985034, essv6470564, essv5700303, essv5927611, essv5676086, essv6052714, essv5878833, essv5529337, essv5861988, essv6302683, essv6524307, essv5787136, essv5719482, essv6200423, essv6564968, essv5534094, essv5915037, essv6247381, essv6045796, essv6249615, essv6477210, essv6319180, essv6148238, essv6257378, essv5649237, essv6320889, essv6359664, essv6594317, essv6252424, essv5774122, essv5451640, essv6522622, essv5434099, essv6084717, essv6444622, essv6009227, essv5803248, essv5417903, essv6416223, essv6111695, essv6470658, essv6163260, essv6495578, essv5969208, essv6322885, essv5935267, essv5732880, essv6355263, essv5578203, essv5858997, essv5993274, essv6517456, essv6550753, essv5902522, essv6457512, essv6211724, essv6559384, essv5744190, essv5474330, essv6379585, essv5902609, essv5415907, essv5918155, essv5693324
SamplesNA19701, NA20761, NA11830, HG00231, HG00142, NA20766, HG00361, HG00242, HG01359, HG00187, HG00306, HG00151, HG00367, NA12058, NA18510, NA19067, HG00272, NA19382, NA19448, HG00702, HG00173, HG01168, NA18982, NA18567, HG01492, NA19062, HG00247, HG00369, HG00334, NA20513, HG00158, HG01069, NA19720, NA18977, HG00160, NA18520, HG01198, HG01048, NA20127, HG00464, HG01353, HG01183, NA20505, HG00190, NA20810, NA20760, NA19455, HG00584, HG00500, HG00635, HG00740, HG01073, NA19084, HG00373, NA19453, HG01101, NA19059, HG00276, HG00152, HG01204, NA19003, HG00258, NA20801, HG00119, HG00265, HG00580, HG00734, NA19311, HG01137, NA20516, HG01489, NA19818, HG00614, HG00312, HG00656, HG00123, NA18873, NA20807, HG00377, HG00372, HG01377, NA19074
Known GenesDNAH14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674484
Frequency
Sample Size1151
Observed Gain0
Observed Loss82
Observed Complex0
Frequencyn/a


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