A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740340



Internal ID10323976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:94145868..94149804hg38UCSC Ensembl
OuterchrX:93400867..93404803hg19UCSC Ensembl
CytobandXq21.32
Allele length
AssemblyAllele length
hg383937
hg193937
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6786975, essv6762943, essv6716055, essv6944055, essv6975739, essv6791083, essv6845395, essv6957908, essv6765421, essv6752006, essv6799833, essv6719966
SamplesSSM008, SSM009, SSM057, SSM023, SSM069, SSM029, SSM062, SSM026, SSM044, SSM085, SSM070, SSM043
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)esv2740340
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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