A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587141



Internal ID6627448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108866483..108915393hg38UCSC Ensembl
Innerchr1:108866983..108914893hg38UCSC Ensembl
Outerchr1:108865483..108916393hg38UCSC Ensembl
chr1:109409105..109458015hg19UCSC Ensembl
Innerchr1:109409605..109457515hg19UCSC Ensembl
Outerchr1:109408105..109459015hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3848911
hg1948911
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10053362
SamplesNA12814
Known GenesGPSM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587141
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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