A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9863642



Internal ID5963566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15272632..15279671hg38UCSC Ensembl
Innerchr1:15272641..15279662hg38UCSC Ensembl
Outerchr1:15272623..15279680hg38UCSC Ensembl
chr1:15599128..15606167hg19UCSC Ensembl
Innerchr1:15599137..15606158hg19UCSC Ensembl
Outerchr1:15599119..15606176hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg387040
hg197040
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585308
Supporting Variants
SamplesNA19378
Known GenesFHAD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9863642
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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