A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738206



Internal ID9972546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:70688988..70691700hg38UCSC Ensembl
Outerchr10:72448744..72451456hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg382713
hg192713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6709260, essv6882110, essv6768277, essv6709298, essv6779174, essv6716493, essv6891009
SamplesSSM006, SSM043, SSM064, SSM067, SSM094, SSM097, SSM041
Known GenesADAMTS14
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2738206
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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