A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740235



Internal ID10323871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:75379723..75380149hg38UCSC Ensembl
OuterchrX:74599558..74599984hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38427
hg19427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6805837, essv6855990, essv6808804, essv6834247, essv6749125, essv6861474, essv6767935, essv6957882, essv6791063, essv6826927, essv6919404, essv6964563
SamplesSSM027, SSM075, SSM064, SSM087, SSM074, SSM088, SSM026, SSM017, SSM082, SSM080, SSM070, SSM056
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)esv2740235
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer