A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585308



Internal ID6972833
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9863642, essv9863641
SamplesNA19378, HG00272
Known GenesFHAD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585308
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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