A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611171



Internal ID6998082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:147531381..147545194hg38UCSC Ensembl
Innerchr6:147531881..147544694hg38UCSC Ensembl
Outerchr6:147530381..147546194hg38UCSC Ensembl
chr6:147852517..147866330hg19UCSC Ensembl
Innerchr6:147853017..147865830hg19UCSC Ensembl
Outerchr6:147851517..147867330hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3813814
hg1913814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12577544
SamplesHG01182
Known GenesSAMD5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611171
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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