A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4046734



Internal ID11715140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156836757..156836809hg38UCSC Ensembl
chr1:156806549..156806601hg19UCSC Ensembl
chr1:155073173..155073225hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1637866
Supporting Variants
SamplesHuRef
Known GenesNTRK1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4046734
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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