A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740021



Internal ID9974363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:26165089..26198461hg38UCSC Ensembl
OuterchrX:26183206..26216578hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg3833373
hg1933373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6765197, essv6873150, essv6845373, essv6834230, essv6964535, essv6799510, essv6716018, essv6952420, essv6708846, essv6771313, essv6771312, essv6754927, essv6754926, essv6765306, essv6892188, essv6716019, essv6964536, essv6884584, essv6952421, essv6873151, essv6845372
SamplesSSM008, SSM027, SSM065, SSM009, SSM041, SSM058, SSM085, SSM082, SSM091, SSM095, SSM025, SSM043, SSM063, SSM012
Known GenesMAGEB6
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)esv2740021
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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