A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13946437



Internal ID5689788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:116954585..116956680hg38UCSC Ensembl
Innerchr10:116954605..116956661hg38UCSC Ensembl
Outerchr10:116954566..116956700hg38UCSC Ensembl
chr10:118714096..118716191hg19UCSC Ensembl
Innerchr10:118714116..118716172hg19UCSC Ensembl
Outerchr10:118714077..118716211hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg382096
hg192096
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624668
Supporting Variants
SamplesNA19085
Known GenesKIAA1598
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13946437
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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