A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725247



Internal ID9959551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48561192..48562010hg38UCSC Ensembl
Outerchr3:48598625..48599443hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38819
hg19819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6730135, essv6922318, essv6836701, essv6798038, essv6804841, essv6951130, essv6759454, essv6704318, essv6833820, essv6748180, essv6938223, essv6693390, essv6903035, essv6875123, essv6722887, essv6751017, essv6742559, essv6829510, essv6926154, essv6921496, essv6933889, essv6942444, essv6820631, essv6899709, essv6968548, essv6914441, essv6847908, essv6872137, essv6840510, essv6955712, essv6700219, essv6781458, essv6947062, essv6793866
SamplesSSM083, SSM071, SSM024, SSM039, SSM013, SSM074, SSM002, SSM057, SSM023, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM061, SSM026, SSM019, SSM003, SSM001, SSM086, SSM068, SSM081, SSM040, SSM072, SSM007, SSM016, SSM053, SSM037, SSM022, SSM010, SSM091, SSM025, SSM056
Known GenesUCN2
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)esv2725247
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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