A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739709



Internal ID10323345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1424989..1425215hg38UCSC Ensembl
OuterchrX:1543882..1544108hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6782695, essv6930957, essv6849855, essv6694702, essv6932529, essv6723711, essv6826880, essv6715986, essv6939498, essv6778696, essv6822866, essv6701567, essv6791009
SamplesSSM045, SSM079, SSM039, SSM003, SSM067, SSM086, SSM068, SSM020, SSM080, SSM037, SSM022, SSM070, SSM043
Known GenesASMTL
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)esv2739709
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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