A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11287457



Internal ID1289273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194987301..195510679hg38UCSC Ensembl
Innerchr3:194987451..195510529hg38UCSC Ensembl
Outerchr3:194987151..195510829hg38UCSC Ensembl
chr3:194708030..195237488hg19UCSC Ensembl
Innerchr3:194708180..195237338hg19UCSC Ensembl
Outerchr3:194707880..195237638hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38523379
hg19529459
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599226
Supporting Variants
SamplesHG03061
Known GenesACAP2, MIR5692C1, XXYLT1, XXYLT1-AS1, XXYLT1-AS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11287457
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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