A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740001



Internal ID9974343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:19467552..19467769hg38UCSC Ensembl
OuterchrX:19485670..19485887hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6969920, essv6667824, essv6965195, essv6927264, essv6952415, essv6765175, essv6740389, essv6799465, essv6975674, essv6716012, essv6892143, essv6855944, essv6939523, essv6680869
SamplesSSM022, SSM033, SSM043, SSM025, SSM012, SSM009, SSM028, SSM029, SSM030, SSM087, SSM019, SSM052, SSM004, SSM008
Known GenesMAP3K15
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)esv2740001
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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