A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735257



Internal ID10318893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142309686..142343360hg38UCSC Ensembl
Outerchr7:142009509..142043190hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3833675
hg1933682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6834118, essv6802839, essv6778564, essv6690794, essv6727482, essv6719793, essv6878879, essv6899990, essv6680734, essv6841587, essv6694591, essv6680735, essv6690796, essv6774898, essv6684325, essv6723588, essv6834119, essv6705366, essv6802838, essv6676936, essv6705920, essv6754831, essv6754833, essv6845244, essv6861319, essv6798575, essv6737236, essv6943844, essv6899991, essv6774899, essv6727483, essv6690795, essv6969781, essv6680733, essv6957617, essv6694590, essv6911678, essv6943843, essv6762851, essv6705364, essv6919231, essv6849707, essv6778563, essv6734602, essv6948177, essv6782562, essv6919230, essv6952271, essv6866035, essv6841585, essv6873058, essv6681476, essv6866036, essv6723586, essv6873059, essv6904058, essv6799242
SamplesSSM100, SSM036, SSM024, SSM045, SSM046, SSM013, SSM009, SSM073, SSM093, SSM050, SSM088, SSM023, SSM058, SSM028, SSM084, SSM062, SSM026, SSM089, SSM017, SSM032, SSM067, SSM044, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM040, SSM072, SSM082, SSM015, SSM005, SSM037, SSM091, SSM025, SSM034, SSM049
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)esv2735257
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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