A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740431



Internal ID10324067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:120241343..120241714hg38UCSC Ensembl
OuterchrX:119375196..119375569hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38372
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6698268, essv6866233, essv6908146, essv6818823, essv6799933, essv6975758, essv6849995, essv6687714, essv6859776, essv6834261, essv6870199, essv6923579, essv6837938, essv6890656, essv6786985, essv6884610
SamplesSSM083, SSM011, SSM038, SSM097, SSM009, SSM090, SSM018, SSM069, SSM029, SSM089, SSM035, SSM014, SSM086, SSM082, SSM078, SSM095
Known GenesNKAPP1
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)esv2740431
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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