A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9847532



Internal ID6472825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7848735..7849453hg38UCSC Ensembl
Innerchr1:7848735..7849453hg38UCSC Ensembl
Outerchr1:7848445..7849710hg38UCSC Ensembl
chr1:7908795..7909513hg19UCSC Ensembl
Innerchr1:7908795..7909513hg19UCSC Ensembl
Outerchr1:7908505..7909770hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38719
hg19719
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585131
Supporting Variants
SamplesNA21128
Known GenesUTS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9847532
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer