A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740422



Internal ID10324058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:118494461..118495289hg38UCSC Ensembl
OuterchrX:117628424..117629252hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38829
hg19829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6795221, essv6680913, essv6931030, essv6690961, essv6694759, essv6667859, essv6935288, essv6687713, essv6881806, essv6771352, essv6719972, essv6732787, essv6904236, essv6786982, essv6969967, essv6849992, essv6716062, essv6698266, essv6802969, essv6841752, essv6897128, essv6975756, essv6873170, essv6775065, essv6964587, essv6677072, essv6927301, essv6900101, essv6749140, essv6752014, essv6830672, essv6915530, essv6811714, essv6731392, essv6892654, essv6723786, essv6760435, essv6837937, essv6701641
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM045, SSM065, SSM038, SSM039, SSM013, SSM073, SSM057, SSM028, SSM084, SSM021, SSM047, SSM069, SSM061, SSM029, SSM019, SSM035, SSM094, SSM032, SSM044, SSM086, SSM033, SSM066, SSM081, SSM020, SSM007, SSM016, SSM037, SSM076, SSM091, SSM099, SSM043, SSM056, SSM030, SSM012
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)esv2740422
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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