A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612683



Internal ID6999583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28984677..28994054hg38UCSC Ensembl
Innerchr7:28984707..28994025hg38UCSC Ensembl
Outerchr7:28984648..28994084hg38UCSC Ensembl
chr7:29024293..29033670hg19UCSC Ensembl
Innerchr7:29024323..29033641hg19UCSC Ensembl
Outerchr7:29024264..29033700hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg389378
hg199378
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12715822, essv12715825, essv12715826, essv12715824, essv12715823, essv12715827
SamplesNA19119, HG01058, NA19461, NA19035, HG02654, HG01089
Known GenesLOC100506497
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612683
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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