A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747695



Internal ID10328665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:78004887..78007058hg38UCSC Ensembl
Outerchr13:78579022..78581193hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg382172
hg192172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6838790, essv6792029, essv6749817, essv6691766, essv6755716, essv6972695, essv6673445, essv6977560, essv6971020, essv6773953, essv6909055, essv6949268, essv6733487, essv6851490, essv6932047, essv6836176, essv6882467, essv6809528, essv6867320, essv6894815, essv6783745, essv6936345, essv6724668, essv6713162, essv6953420, essv6702638, essv6732309, essv6842629, essv6763503, essv6800400, essv6924521, essv6831491, essv6945144, essv6835041
SamplesSSM036, SSM008, SSM083, SSM024, SSM075, SSM045, SSM011, SSM039, SSM042, SSM023, SSM058, SSM028, SSM084, SSM021, SSM047, SSM018, SSM029, SSM062, SSM094, SSM031, SSM001, SSM014, SSM086, SSM068, SSM081, SSM072, SSM082, SSM020, SSM010, SSM070, SSM025, SSM004, SSM098, SSM056
Known Genes
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)esv2747695
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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