A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10747053



Internal ID748869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165193079..165205978hg38UCSC Ensembl
Innerchr2:165193111..165205946hg38UCSC Ensembl
Outerchr2:165193047..165206010hg38UCSC Ensembl
chr2:166049589..166062488hg19UCSC Ensembl
Innerchr2:166049621..166062456hg19UCSC Ensembl
Outerchr2:166049557..166062520hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3812900
hg1912900
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593233
Supporting Variants
SamplesHG00580
Known GenesSCN3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10747053
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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