A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10269693



Internal ID271509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205061168..205082555hg38UCSC Ensembl
chr1:205030296..205051683hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3821388
hg1921388
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588628
Supporting Variants
SamplesNA20506
Known GenesCNTN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10269693
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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