A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740588



Internal ID9974931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:148546518..148547603hg38UCSC Ensembl
OuterchrX:147628039..147629124hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg381086
hg191086
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6939586, essv6746319, essv6767966, essv6892809, essv6841765, essv6754971, essv6911879, essv6969982, essv6791106, essv6856056, essv6975787, essv6904254, essv6731408, essv6952487, essv6814804, essv6830684, essv6740456, essv6749159, essv6800088, essv6716074, essv6680927, essv6743527, essv6667871, essv6752034, essv6765676, essv6760455, essv6957954
SamplesSSM008, SSM064, SSM087, SSM013, SSM009, SSM057, SSM058, SSM028, SSM084, SSM047, SSM061, SSM029, SSM026, SSM033, SSM081, SSM015, SSM053, SSM077, SSM022, SSM055, SSM070, SSM025, SSM043, SSM052, SSM056, SSM030, SSM012
Known GenesAFF2
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)esv2740588
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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