A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10207455



Internal ID209271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181682055..181686052hg38UCSC Ensembl
Innerchr1:181682105..181686002hg38UCSC Ensembl
Outerchr1:181682005..181686102hg38UCSC Ensembl
chr1:181651191..181655188hg19UCSC Ensembl
Innerchr1:181651241..181655138hg19UCSC Ensembl
Outerchr1:181651141..181655238hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg383998
hg193998
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588089
Supporting Variants
SamplesHG02307
Known GenesCACNA1E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10207455
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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