A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13745157



Internal ID3746973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:30034460..30043527hg38UCSC Ensembl
Innerchr10:30034460..30043527hg38UCSC Ensembl
Outerchr10:30034441..30043618hg38UCSC Ensembl
chr10:30323389..30332456hg19UCSC Ensembl
Innerchr10:30323389..30332456hg19UCSC Ensembl
Outerchr10:30323370..30332547hg19UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg389068
hg199068
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622783
Supporting Variants
SamplesNA12830
Known GenesKIAA1462
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13745157
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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