A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719761



Internal ID10303397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:18388716..18389424hg38UCSC Ensembl
Outerchr2:18569982..18570690hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38709
hg19709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6747995, essv6739064, essv6952507, essv6733677, essv6759271, essv6864295, essv6922020, essv6961994, essv6729899, essv6720899, essv6902793, essv6853648, essv6847457, essv6736192, essv6750807, essv6671377, essv6756738, essv6836467, essv6840256, essv6718437, essv6910344, essv6844112, essv6669409, essv6773710, essv6785302, essv6777213, essv6704099, essv6868936, essv6955224, essv6925943, essv6693090, essv6789469, essv6877856, essv6832840, essv6883457, essv6769825, essv6710858, essv6745144, essv6968257, essv6950838, essv6813420, essv6722275, essv6697181, essv6679459, essv6917726, essv6871924, essv6919196, essv6946772
SamplesSSM059, SSM083, SSM027, SSM024, SSM045, SSM065, SSM087, SSM038, SSM013, SSM093, SSM050, SSM042, SSM057, SSM028, SSM084, SSM090, SSM047, SSM018, SSM069, SSM061, SSM026, SSM089, SSM017, SSM019, SSM003, SSM031, SSM067, SSM044, SSM086, SSM033, SSM066, SSM085, SSM040, SSM082, SSM007, SSM015, SSM005, SSM037, SSM077, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM052, 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)esv2719761
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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