A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589176



Internal ID6972111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234566978..234573593hg38UCSC Ensembl
Innerchr1:234566979..234573593hg38UCSC Ensembl
Outerchr1:234566978..234573594hg38UCSC Ensembl
chr1:234702724..234709339hg19UCSC Ensembl
Innerchr1:234702725..234709339hg19UCSC Ensembl
Outerchr1:234702724..234709340hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg386616
hg196616
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10330347, essv10330344, essv10330340, essv10330338, essv10330337, essv10330341, essv10330343, essv10330336, essv10330339, essv10330345, essv10330349, essv10330342, essv10330348, essv10330346
SamplesNA18547, NA18960, NA18942, NA18966, NA18973, HG02070, NA18939, HG01810, NA19081, NA18945, HG02064, HG00614, HG01868, HG01872
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589176
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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