A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9841900



Internal ID6467193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2776470..2780643hg38UCSC Ensembl
Innerchr1:2776470..2780643hg38UCSC Ensembl
Outerchr1:2776299..2780800hg38UCSC Ensembl
chr1:2693016..2697186hg19UCSC Ensembl
Innerchr1:2693016..2697186hg19UCSC Ensembl
Outerchr1:2692845..2697343hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg384174
hg194171
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585032
Supporting Variants
SamplesHG00404
Known GenesTTC34
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9841900
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