A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3915137



Internal ID11846734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244621028..244621084hg38UCSC Ensembl
chr1:244784330..244784386hg19UCSC Ensembl
chr1:242850953..242851009hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1134718
Supporting Variants
SamplesHuRef
Known GenesC1orf101
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3915137
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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