A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585042



Internal ID6625360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3585575..4260083hg38UCSC Ensembl
Innerchr1:3585725..4259933hg38UCSC Ensembl
Outerchr1:3585425..4260233hg38UCSC Ensembl
chr1:3502139..4320143hg19UCSC Ensembl
Innerchr1:3502289..4319993hg19UCSC Ensembl
Outerchr1:3501989..4320293hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38674509
hg19818005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9841974, essv9841973
SamplesHG02481, NA20872
Known GenesC1orf174, CCDC27, CEP104, DFFB, LINC01134, LOC728716, LRRC47, MEGF6, SMIM1, TP73, TP73-AS1, TPRG1L, WRAP73
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585042
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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