A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740595



Internal ID9974938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:150382861..150383217hg38UCSC Ensembl
OuterchrX:149551129..149551485hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6782788, essv6870210, essv6969986, essv6771363, essv6856058, essv6767968, essv6791107, essv6723808, essv6808828, essv6873184, essv6684467, essv6890674, essv6727652, essv6957956, essv6687730, essv6900115, essv6939588, essv6682721, essv6837948, essv6952489, essv6802982, essv6878997, essv6975789, essv6892821, essv6904256, essv6850026, essv6859943
SamplesSSM065, SSM022, SSM013, SSM086, SSM091, SSM090, SSM064, SSM035, SSM025, SSM045, SSM083, SSM097, SSM005, SSM012, SSM093, SSM100, SSM011, SSM028, SSM029, SSM073, SSM034, SSM087, SSM046, SSM068, SSM075, SSM026, SSM070
Known GenesMAMLD1
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)esv2740595
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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