A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673610



Internal ID9593029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:6272556..6273492hg38UCSC Ensembl
chr18:6272555..6273491hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38937
hg19937
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5576280, essv5651931, essv5747679, essv6417137, essv5439798, essv6035016, essv6094284, essv6432679, essv5850821, essv5910275, essv6501743, essv6081006, essv6055586, essv6030440, essv6429171, essv5436741, essv6194154, essv5645783, essv6368366, essv6247155
SamplesNA18605, HG00257, HG00736, NA19469, NA19334, HG00699, NA18628, NA18559, NA19982, HG01061, NA18636, NA19908, HG00634, NA19313, NA18487, HG00654, HG01390, NA18548, NA18610, HG01102
Known GenesL3MBTL4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673610
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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