A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639977



Internal ID7026755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12719091..12720947hg38UCSC Ensembl
Innerchr17:12719134..12720905hg38UCSC Ensembl
Outerchr17:12719049..12720990hg38UCSC Ensembl
chr17:12622408..12624264hg19UCSC Ensembl
Innerchr17:12622451..12624222hg19UCSC Ensembl
Outerchr17:12622366..12624307hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg381857
hg191857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15613027, essv15613026
SamplesNA19118, HG00381
Known GenesMYOCD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639977
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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