A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10280470



Internal ID282286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207667715..207672472hg38UCSC Ensembl
Innerchr1:207667716..207672472hg38UCSC Ensembl
Outerchr1:207667715..207672473hg38UCSC Ensembl
chr1:207841060..207845817hg19UCSC Ensembl
Innerchr1:207841061..207845817hg19UCSC Ensembl
Outerchr1:207841060..207845818hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg384758
hg194758
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588675
Supporting Variants
SamplesNA19095
Known GenesCR1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10280470
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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