A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3578280



Internal ID7049662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210533261..210533360hg38UCSC Ensembl
chr1:210706605..210706704hg19UCSC Ensembl
chr1:208773228..208773327hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38100
hg19100
hg18100
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1006570
Supporting Variants
SamplesHuRef
Known GenesHHAT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3578280
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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