A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6855969



Internal ID9907169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:47148314..47149090hg38UCSC Ensembl
OuterchrX:47007713..47008489hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38777
hg19777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740135
Supporting Variants
SamplesSSM087
Known GenesRBM10
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)essv6855969
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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