A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12889142



Internal ID2632843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:91901682..91903483hg38UCSC Ensembl
Innerchr7:91901682..91903483hg38UCSC Ensembl
Outerchr7:91901512..91903626hg38UCSC Ensembl
chr7:91530996..91532797hg19UCSC Ensembl
Innerchr7:91530996..91532797hg19UCSC Ensembl
Outerchr7:91530826..91532940hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg381802
hg191802
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614131
Supporting Variants
SamplesHG02330
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12889142
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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