A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748774



Internal ID10329744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:58240958..58241600hg38UCSC Ensembl
Outerchr1:58706630..58707272hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38643
hg19643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6840011, essv6813200, essv6914028, essv6682857, essv6689295, essv6748909, essv6917063, essv6961623, essv6925727, essv6669006
SamplesSSM036, SSM008, SSM027, SSM084, SSM019, SSM003, SSM031, SSM016, SSM077, SSM034
Known GenesDAB1
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)esv2748774
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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