A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12868913



Internal ID4699163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:81857516..81862869hg38UCSC Ensembl
Innerchr7:81857566..81862819hg38UCSC Ensembl
Outerchr7:81857408..81862977hg38UCSC Ensembl
chr7:81486832..81492185hg19UCSC Ensembl
Innerchr7:81486882..81492135hg19UCSC Ensembl
Outerchr7:81486724..81492293hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg385354
hg195354
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613893
Supporting Variants
SamplesHG04219
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12868913
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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