A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12688051



Internal ID3801888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16336159..16443040hg38UCSC Ensembl
Innerchr7:16336659..16442540hg38UCSC Ensembl
Outerchr7:16335159..16444040hg38UCSC Ensembl
chr7:16375784..16482665hg19UCSC Ensembl
Innerchr7:16376284..16482165hg19UCSC Ensembl
Outerchr7:16374784..16483665hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg38106882
hg19106882
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612390
Supporting Variants
SamplesHG03446
Known GenesISPD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12688051
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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