A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10264470



Internal ID3859517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200155898..200170198hg38UCSC Ensembl
Innerchr1:200155898..200170198hg38UCSC Ensembl
Outerchr1:200155802..200170376hg38UCSC Ensembl
chr1:200125026..200139326hg19UCSC Ensembl
Innerchr1:200125026..200139326hg19UCSC Ensembl
Outerchr1:200124930..200139504hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3814301
hg1914301
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588554
Supporting Variants
SamplesHG03490
Known GenesNR5A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10264470
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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