A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12320371



Internal ID5502562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36619569..36627172hg38UCSC Ensembl
Innerchr6:36619569..36627172hg38UCSC Ensembl
Outerchr6:36619360..36627360hg38UCSC Ensembl
chr6:36587346..36594949hg19UCSC Ensembl
Innerchr6:36587346..36594949hg19UCSC Ensembl
Outerchr6:36587137..36595137hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg387604
hg197604
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608709
Supporting Variants
SamplesNA18986
Known GenesMIR3925
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12320371
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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