A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12429561



Internal ID2280172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:74468492..74474670hg38UCSC Ensembl
Innerchr6:74468992..74474170hg38UCSC Ensembl
Outerchr6:74467492..74475670hg38UCSC Ensembl
chr6:75178208..75184386hg19UCSC Ensembl
Innerchr6:75178708..75183886hg19UCSC Ensembl
Outerchr6:75177208..75185386hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg386179
hg196179
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609548
Supporting Variants
SamplesHG02035
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12429561
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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