A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12328533



Internal ID2330349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42175926..42188133hg38UCSC Ensembl
Innerchr6:42176076..42187983hg38UCSC Ensembl
Outerchr6:42175776..42188283hg38UCSC Ensembl
chr6:42143664..42155871hg19UCSC Ensembl
Innerchr6:42143814..42155721hg19UCSC Ensembl
Outerchr6:42143514..42156021hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3812208
hg1912208
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608795
Supporting Variants
SamplesHG00263
Known GenesGUCA1A, GUCA1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12328533
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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