A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9943004



Internal ID6568297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59380016..59380840hg38UCSC Ensembl
Innerchr1:59380066..59380790hg38UCSC Ensembl
Outerchr1:59379936..59380920hg38UCSC Ensembl
chr1:59845688..59846512hg19UCSC Ensembl
Innerchr1:59845738..59846462hg19UCSC Ensembl
Outerchr1:59845608..59846592hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38825
hg19825
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586181
Supporting Variants
SamplesNA19107
Known GenesFGGY
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9943004
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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