A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739703



Internal ID10323339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1404496..1405537hg38UCSC Ensembl
OuterchrX:1523389..1524430hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg381042
hg191042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6837890, essv6799379, essv6841698, essv6732055, essv6887387, essv6712302, essv6915479, essv6830614, essv6930956, essv6897091, essv6873133
SamplesSSM083, SSM042, SSM084, SSM096, SSM081, SSM072, SSM020, SSM007, SSM016, SSM091, SSM099
Known GenesASMTL, ASMTL-AS1
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)esv2739703
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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