A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727010



Internal ID10310646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:6879731..6880474hg38UCSC Ensembl
Outerchr4:6881458..6882201hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38744
hg19744
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6726556, essv6886524, essv6707897, essv6906868, essv6711298, essv6918188, essv6886523, essv6962748, essv6718836, essv6951335, essv6934084, essv6836875, essv6926315, essv6883787, essv6817455, essv6938421, essv6833256, essv6821875, essv6956017, essv6914598, essv6730333, essv6934083
SamplesSSM083, SSM027, SSM046, SSM079, SSM042, SSM041, SSM021, SSM047, SSM096, SSM026, SSM017, SSM019, SSM044, SSM014, SSM082, SSM078, SSM016, SSM022, SSM095, SSM025
Known GenesKIAA0232
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)esv2727010
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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