A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12875322



Internal ID3870597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:85212453..85213727hg38UCSC Ensembl
Innerchr7:85212454..85213726hg38UCSC Ensembl
Outerchr7:85212452..85213728hg38UCSC Ensembl
chr7:84841769..84843043hg19UCSC Ensembl
Innerchr7:84841770..84843042hg19UCSC Ensembl
Outerchr7:84841768..84843044hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg381275
hg191275
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613983
Supporting Variants
SamplesHG03515
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12875322
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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