A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9846130



Internal ID6471423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6801103..6801761hg38UCSC Ensembl
Innerchr1:6801153..6801711hg38UCSC Ensembl
Outerchr1:6801021..6801843hg38UCSC Ensembl
chr1:6861163..6861821hg19UCSC Ensembl
Innerchr1:6861213..6861771hg19UCSC Ensembl
Outerchr1:6861081..6861903hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38659
hg19659
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585114
Supporting Variants
SamplesNA18909
Known GenesCAMTA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9846130
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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