A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720499



Internal ID9954795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:108238949..108239820hg38UCSC Ensembl
Outerchr2:108855405..108856276hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38872
hg19872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6836534, essv6759325, essv6769882, essv6859599, essv6804691, essv6953128, essv6683134, essv6962110, essv6762055, essv6910424, essv6753781, essv6722334, essv6773778, essv6889308, essv6669540, essv6807647, essv6822709, essv6697244, essv6919840, essv6707578, essv6781252, essv6868993, essv6748052, essv6793680, essv6785383, essv6942210, essv6810586, essv6788598, essv6844185, essv6840330, essv6829330, essv6906461, essv6704171, essv6898884, essv6679530, essv6933691, essv6896097, essv6766802, essv6914281, essv6733724, essv6864396, essv6846998, essv6874985
SamplesSSM100, SSM083, SSM071, SSM027, SSM075, SSM045, SSM011, SSM064, SSM065, SSM038, SSM097, SSM074, SSM088, SSM002, SSM041, SSM023, SSM058, SSM092, SSM084, SSM090, SSM021, SSM069, SSM061, SSM062, SSM089, SSM003, SSM031, SSM001, SSM014, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM015, SSM016, SSM076, SSM034, SSM004, SSM099, SSM049, SSM056
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)esv2720499
Frequency
Sample Size96
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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