A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739752



Internal ID10323388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1624465..1624848hg38UCSC Ensembl
OuterchrX:1743358..1743741hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6834208, essv6701571, essv6969901, essv6795152, essv6762909, essv6786913, essv6715990, essv6677025
SamplesSSM071, SSM039, SSM028, SSM069, SSM062, SSM032, SSM082, 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)esv2739752
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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