A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740984



Internal ID9975321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:112376787..112377160hg38UCSC Ensembl
Outerchr10:114136545..114136918hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6791578, essv6940052, essv6842188, essv6924071, essv6919887, essv6787499, essv6771807, essv6850769
SamplesSSM065, SSM022, SSM086, SSM084, SSM017, SSM069, SSM018, SSM070
Known GenesACSL5
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)esv2740984
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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