A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727316



Internal ID10310952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:27541473..27542942hg38UCSC Ensembl
Outerchr4:27543095..27544564hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg381470
hg191470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6938449, essv6755488, essv6973778, essv6956067, essv6711329, essv6854400, essv6748337, essv6670196, essv6962786, essv6923307, essv6739478
SamplesSSM008, SSM027, SSM087, SSM042, SSM029, SSM026, SSM003, SSM031, SSM022, SSM052, 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)esv2727316
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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