A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12769143



Internal ID5673610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50889210..50901308hg38UCSC Ensembl
Innerchr7:50889360..50901158hg38UCSC Ensembl
Outerchr7:50889060..50901458hg38UCSC Ensembl
chr7:50956907..50969005hg19UCSC Ensembl
Innerchr7:50957057..50968855hg19UCSC Ensembl
Outerchr7:50956757..50969155hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3812099
hg1912099
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613132
Supporting Variants
SamplesNA19078
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12769143
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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