A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745497



Internal ID9979781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:24344890..24345236hg38UCSC Ensembl
Outerchr1:24671380..24671726hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6793303, essv6699601, essv6725855
SamplesSSM071, SSM039, SSM046
Known GenesGRHL3
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)esv2745497
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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