A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614045



Internal ID6654252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:88039132..88043458hg38UCSC Ensembl
Innerchr7:88039632..88042958hg38UCSC Ensembl
Outerchr7:88038132..88044458hg38UCSC Ensembl
chr7:87668447..87672773hg19UCSC Ensembl
Innerchr7:87668947..87672273hg19UCSC Ensembl
Outerchr7:87667447..87673773hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg384327
hg194327
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12879871, essv12879866, essv12879858, essv12879860, essv12879868, essv12879862, essv12879857, essv12879859, essv12879865, essv12879861, essv12879863, essv12879869, essv12879873, essv12879864, essv12879872, essv12879867, essv12879870
SamplesHG00323, HG00313, NA12342, HG00351, HG00368, HG00173, HG01049, HG00338, NA12829, NA12400, NA12234, HG00176, NA12890, HG01334, NA06984, NA12156, NA20792
Known GenesADAM22
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614045
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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