A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10188572



Internal ID2010527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173842525..173844442hg38UCSC Ensembl
Innerchr1:173842602..173844366hg38UCSC Ensembl
Outerchr1:173842449..173844519hg38UCSC Ensembl
chr1:173811663..173813580hg19UCSC Ensembl
Innerchr1:173811740..173813504hg19UCSC Ensembl
Outerchr1:173811587..173813657hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381918
hg191918
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587949
Supporting Variants
SamplesHG01855
Known GenesDARS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10188572
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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