A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587112



Internal ID6627419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107658425..107659805hg38UCSC Ensembl
Innerchr1:107658471..107659759hg38UCSC Ensembl
Outerchr1:107658379..107659851hg38UCSC Ensembl
chr1:108201047..108202427hg19UCSC Ensembl
Innerchr1:108201093..108202381hg19UCSC Ensembl
Outerchr1:108201001..108202473hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381381
hg191381
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10051513, essv10051515, essv10051517, essv10051512, essv10051514, essv10051516
SamplesHG03410, HG03401, HG03376, NA19117, NA19703, HG03388
Known GenesVAV3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587112
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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