A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10311356



Internal ID6965254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227351570..227357814hg38UCSC Ensembl
Innerchr1:227351620..227357764hg38UCSC Ensembl
Outerchr1:227351520..227357864hg38UCSC Ensembl
chr1:227539271..227545515hg19UCSC Ensembl
Innerchr1:227539321..227545465hg19UCSC Ensembl
Outerchr1:227539221..227545565hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg386245
hg196245
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589033
Supporting Variants
SamplesNA21142
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10311356
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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