A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657809



Internal ID9923914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:61649694..61654100hg38UCSC Ensembl
Outerchr1:61649323..61654470hg38UCSC Ensembl
Innerchr1:62115366..62119772hg19UCSC Ensembl
Outerchr1:62114995..62120142hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg385148
hg195148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv45e199
Supporting Variantsessv6509336, essv5611967, essv5804353, essv5596803, essv6476736, essv5702950, essv6027522, essv5790330, essv5468636, essv6335134, essv5782361, essv6054214, essv6569949, essv5576935, essv6177400, essv6173684, essv5992344, essv6341675, essv6189382, essv5429185, essv6231781, essv6574390, essv5476595
SamplesHG00187, HG00367, HG00318, HG00177, HG00337, HG00330, HG00346, HG00334, HG00185, HG00325, HG00182, HG00178, HG00323, HG00268, HG00190, HG00324, HG00331, HG00321, HG00366, HG00319, HG00339, HG00329, HG00174
Known GenesMGC34796
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657809
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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