A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614855



Internal ID7001748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123483818..123486188hg38UCSC Ensembl
Innerchr7:123483832..123486174hg38UCSC Ensembl
Outerchr7:123483804..123486202hg38UCSC Ensembl
chr7:123123872..123126242hg19UCSC Ensembl
Innerchr7:123123886..123126228hg19UCSC Ensembl
Outerchr7:123123858..123126256hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg382371
hg192371
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12949087, essv12949086
SamplesHG03910, HG03733
Known GenesIQUB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614855
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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