A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10039341



Internal ID41157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103560121..103594054hg38UCSC Ensembl
chr1:104102743..104136676hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3833934
hg1933934
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587013
Supporting Variants
SamplesHG02052
Known GenesACTG1P4, AMY2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10039341
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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