A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733358



Internal ID10316994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168411515..168412192hg38UCSC Ensembl
Outerchr6:168812195..168812872hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38678
hg19678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6727268, essv6969535, essv6826559, essv6731024, essv6963978, essv6770972, essv6975058, essv6943606, essv6923221, essv6694333, essv6774726, essv6957270, essv6849362
SamplesSSM027, SSM046, SSM065, SSM023, SSM028, SSM047, SSM018, SSM029, SSM026, SSM086, SSM066, SSM080, SSM037
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)esv2733358
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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