A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12169598



Internal ID2171414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:613060..710620hg38UCSC Ensembl
chr6:613060..710620hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3897561
hg1997561
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607858
Supporting Variants
SamplesHG03917
Known GenesEXOC2, HUS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12169598
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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