A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719940



Internal ID9954235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:180969855..181062846hg38UCSC Ensembl
Outerchr1:180938991..181031982hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3892992
hg1992992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864123, essv6946617, essv6886082, essv6941935, essv6679304, essv6902661, essv6718281, essv6666978, essv6864124, essv6950687, essv6793435
SamplesSSM071, SSM024, SSM013, SSM023, SSM096, SSM089, SSM044, SSM033, SSM025, SSM030
Known GenesMR1, STX6
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)esv2719940
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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