A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744793



Internal ID10325763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:76692358..76693021hg38UCSC Ensembl
Outerchr11:76403402..76404065hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38664
hg19664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6815382, essv6740975, essv6834142, essv6976977, essv6672993, essv6936022, essv6702348, essv6760896, essv6684992, essv6857052, essv6904825, essv6768427, essv6809290, essv6823542, essv6862268
SamplesSSM075, SSM064, SSM079, SSM087, SSM039, SSM013, SSM088, SSM021, SSM061, SSM029, SSM031, SSM077, SSM010, SSM034, SSM052
Known GenesGUCY2EP
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)esv2744793
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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