A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735861



Internal ID10319497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:44179292..44180220hg38UCSC Ensembl
Outerchr10:44674740..44675668hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38929
hg19929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6701376, essv6755285, essv6688034, essv6758007, essv6965264, essv6803254, essv6734974, essv6749443, essv6765584, essv6760723, essv6856695, essv6685154, essv6866745
SamplesSSM059, SSM027, SSM087, SSM009, SSM058, SSM061, SSM089, SSM035, SSM001, SSM005, SSM049, SSM056, SSM063
Known Genes
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)esv2735861
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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