A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745638



Internal ID9979922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:23786576..23787146hg38UCSC Ensembl
Outerchr12:23939510..23940080hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38571
hg19571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6842438, essv6796027, essv6970801, essv6688285, essv6936126, essv6834880, essv6900644, essv6746838, essv6783562, essv6716796, essv6738464, essv6865610
SamplesSSM100, SSM071, SSM011, SSM028, SSM084, SSM021, SSM035, SSM068, SSM082, SSM007, SSM055, SSM043
Known GenesSOX5
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)esv2745638
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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