A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745286



Internal ID9979570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:23392097..23392866hg38UCSC Ensembl
Outerchr1:23718590..23719359hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38770
hg19770
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6793300, essv6784999, essv6689271, essv6950570, essv6773445, essv6707275, essv6729632, essv6902547, essv6769529, essv6710595, essv6686159, essv6714253, essv6839983, essv6954759, essv6679182
SamplesSSM036, SSM071, SSM065, SSM013, SSM042, SSM041, SSM084, SSM047, SSM069, SSM026, SSM035, SSM033, SSM066, SSM025, SSM043
Known GenesTCEA3
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)esv2745286
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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