A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739754



Internal ID10323390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1636638..1637248hg38UCSC Ensembl
OuterchrX:1755531..1756141hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38611
hg19611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6799383, essv6791014, essv6859165, essv6876081, essv6782700, essv6687647, essv6830618, essv6826884, essv6799299, essv6834209, essv6952393, essv6935230, essv6698215, essv6671825, essv6822869, essv6870148
SamplesSSM011, SSM079, SSM038, SSM009, SSM092, SSM090, SSM021, SSM035, SSM031, SSM068, SSM081, SSM072, SSM082, SSM080, SSM070, SSM025
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)esv2739754
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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