A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731509



Internal ID10315145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:4557728..4560239hg38UCSC Ensembl
Outerchr6:4557962..4560473hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg382512
hg192512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6938892, essv6743064, essv6774528, essv6751515, essv6907433, essv6969261, essv6951778, essv6855093, essv6841151, essv6877264, essv6694061, essv6884129, essv6974627
SamplesSSM087, SSM002, SSM057, SSM028, SSM084, SSM029, SSM014, SSM066, SSM053, SSM037, SSM022, SSM095, SSM025
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)esv2731509
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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