A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10176763



Internal ID178579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165273088..165277767hg38UCSC Ensembl
chr1:165242325..165247004hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg384680
hg194680
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587802
Supporting Variants
SamplesHG02401
Known GenesLMX1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10176763
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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