A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9914580



Internal ID1108714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38440838..38442356hg38UCSC Ensembl
Innerchr1:38440838..38442356hg38UCSC Ensembl
Outerchr1:38440653..38442527hg38UCSC Ensembl
chr1:38906510..38908028hg19UCSC Ensembl
Innerchr1:38906510..38908028hg19UCSC Ensembl
Outerchr1:38906325..38908199hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381519
hg191519
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585766
Supporting Variants
SamplesHG00737
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9914580
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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