A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739746



Internal ID10323382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1608958..1610607hg38UCSC Ensembl
OuterchrX:1727851..1729500hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg381650
hg191650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6814744, essv6731326, essv6957793, essv6802916, essv6723713, essv6731325, essv6923524, essv6715989, essv6826883, essv6782697, essv6948295, essv6975627, essv6719892
SamplesSSM024, SSM045, SSM073, SSM047, SSM018, SSM029, SSM026, SSM044, SSM068, SSM080, SSM077, SSM043
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)esv2739746
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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