A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739946



Internal ID10323582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:8816921..8819490hg38UCSC Ensembl
OuterchrX:8784962..8787531hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg382570
hg192570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6732254, essv6799410, essv6939517, essv6719914, essv6845366, essv6751962, essv6799404, essv6944001, essv6771305, essv6740382
SamplesSSM065, SSM009, SSM057, SSM023, SSM044, SSM085, SSM072, SSM007, SSM022, SSM052
Known Genes
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)esv2739946
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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