A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3690204



Internal ID12071666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210533349..210533449hg38UCSC Ensembl
chr1:210706693..210706793hg19UCSC Ensembl
chr1:208773316..208773416hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38101
hg19101
hg18101
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1205334
Supporting Variants
SamplesHuRef
Known GenesHHAT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3690204
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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