A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739764



Internal ID10323400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1640604..1641328hg38UCSC Ensembl
OuterchrX:1759497..1760221hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38725
hg19725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6837894, essv6904166, essv6684398, essv6791015, essv6712307, essv6690895, essv6923525, essv6677026, essv6911787, essv6952394
SamplesSSM036, SSM083, SSM013, SSM042, SSM018, SSM032, SSM015, SSM070, SSM025, SSM034
Known GenesASMT
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)esv2739764
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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