A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740234



Internal ID10323870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:75379349..75380326hg38UCSC Ensembl
OuterchrX:74599184..74600161hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38978
hg19978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6740415, essv6975719, essv6805837, essv6855990, essv6808804, essv6834247, essv6965417, essv6667843, essv6749125, essv6765377, essv6861474, essv6767935, essv6957882, essv6799722, essv6911847, essv6791063, essv6826927, essv6919404, essv6964563
SamplesSSM008, SSM027, SSM075, SSM064, SSM087, SSM009, SSM074, SSM088, SSM029, SSM026, SSM017, SSM082, SSM015, SSM080, SSM070, SSM004, SSM052, SSM056, SSM030
Known GenesZDHHC15
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)esv2740234
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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